A child presented to the casualty with complaints of severe joint
pains. Examination revealed a pale, anaemic child with an
enlarged spleen. Biochemical findings were as follows:
SERUM URINE
Total bilirubin: 10 mg% Bile salts: Negative
Conjugated bilirubin: 0.5 mg% Bile Pigments: Negative
Unconjugated bilirubin : 9.5 mg%
ALP: 45 U/l
AST: 30 U/l
ALT: 26 U/l
1.What is the probable diagnosis?
2.What are the probable causes of this disorder?
3.What is Vanderbergh’s test?
4. Support your diagnosis with the serum findings.
5. Support your diagnosis with urinary findings.
1
A student, who ate in a roadside Dhaba presented to the
casualty with recurrent episodes of vomiting and pyrexia.
Examination revealed a dehydrated and icteric patients with
enlarged liver. Biochemical findings were follows:
SERUM URINE
Total bilirubin : 10 mg% Bile salts:++
Conjugated : 5.5 mg% Bile pigments: +
Unconjugated : 4.5 mg% Urobilinogen: +
ALP: 90 U/l
AST: 260 U/l
ALT : 290 U/l
1.What is the probable diagnosis?
2.What are the causes of this disorder?
3.What are the interpretations of vanderbergh’s test?
4.What are diagnostic abnormalities in serum?
5.What are the diagnostic abnormalities in urine for this
patient?
2
The following are some of the biochemical findings in a patient.
SERUM URINE
Total bilirubin: 10 mg%
Conjugated : 8.5 mg% Bile salts : ++
Unconjugated : 1.5 mg% Bile Pigments : ++
ALP : 777 U/l Urobilinogen : negative
AST : 25 U/l
ALT : 28 U/l
FAECES sterco bilinogen: Negative(Clay coloured stools)
Blood coagulation time : Prolonged
1.What is the probable diagnosis?
2.What are the causes of this disorder?
3.What is the result of Vanderbergh’s test?
4.What are diagnostic abnormalities in serum?
5.What are the diagnostic abnormalities in urine for this patient?
3
A Fair chubby boy was brought to the hospital with
the complaint that he has mental retardation. Blood
chemistry revealed an abnormally high phenyl -
alanine. Phenyl acetate, phenyl pyruvate and phenyl
lactate were present in the urine in appreciable
amounts.
1. What is your probable diagnosis? Name the enzyme
deficient in this disorder.
2. What are the clinical features of this disorder?
3. What is the level of phenylalanine in blood?
4.What are the tests used for diagnosis in this patient?
5. What is the treatment for this patient?
4
A mother sought medical help for her child with the
complaint that diapers used for the child stained
dark. Urine on exposure becomes dark. Urine gave a
positive Benedict’s but glucose oxidase test was
negative. Ferric chloride test with urine was positive.
1.Name the disorder.
2.What is the biochemical defect?
3.What are alkaptone bodies?
4.What is ochronosis?
5. What is the cause of blackening of urine in this
patient?
5
A 60 year old man was admitted to hospital with severe
abdominal pain which started two and a half hours earlier. He
was not taking any drugs. On examination, he was in shock, and
had a distended, rigid abdomen.
Blood pH: 7.05
PCo2: 40 mm Hg
Plasma bicarbonate: 7.00 mEq/L
1. What is your probable diagnosis?
2. What is anion gap?
3. illustrate the causes of this disorder.
4. Is it compensated?
5. What is the treatment prescribed for this patient?
6
A 45 year old man admitted to the hospital with history of persistent
vomiting. He had a long history of peptic ulcer for which no advice
was sought. On examination he was dehydrated and his respiration
was shallow:
Blood pH: 7.56
pCO2: 40 mm Hg
Plasma bicarbonate: 37.00 mEq/L
1.What is your probable diagnosis?
2. What is the normal range of plasma bicarbonate?
3. What are the causes of this disorder?
4. Is it compensated?
5. What is normal blood pH?
7
As part of a class experiment in physiology, a medical student volunteered to have a
sample of arterial blood taken. The demonstrator took some time to explain the
procedure to the class, during which time the student became increasingly anxious.
As the blood was being drawn she complained of tingling in her fingers and toes.
Blood pH : 7.52
pCo2 : 26.00 mm Hg
Plasma bicarbonate : 22.00 mEq/L
1. What is your diagnosis?
2. What is the clinical presentation of this disorder?
3. What are the causes of this disorder?
4. Is it compensated or uncompensated?
5. What is the normal range of pCO2 ?
8
Comment on the acid base status of this patient from the following
data;
Blood pH : 7.2
pCo2: 82 mm Hg
Plasma bicarbonate: 27 mEq/L
1.What is the probable diagnosis?
2.What is the clinical presentation of this disorder?
3.What are the causes of this disorder?
4.Is it compensated or uncompensated?
5.What are the normal values of serum Na,K,Cl?
9
• A 50 year old female complains of feeling tired all the
time, cold intolerance and constipation. She is
afebrile and appears good in health but gained
weight. She has enlarged non tender swelling in the
neck. Reflexes are diminished and skin is dry.
1.What is most likely diagnosis?
2.What lab test you need to confirm the diagnosis?
3.What is treatment of choice?
4.Lab findings in thyrotoxicosis?
5.What is Cretinism?
60 years old man was brought to the hospital in a comatose
state. His laboratory reports are given below.
Blood urea : 24 mg/dl
Blood sugar : 400 mg/dl
Blood pH : 7.25
Serum Bicarbonate : 15mEq/L
Rothera’s test (urine) : Positive
Benedict’s test (urine) : Positive (orange)
•What is your probable diagnosis?
•What is glycated hemoglobin?
•What are the consequences of ketosis?
•What is metabolic syndrome?
•What is the line of treatment for this disorder? 11
• A 23year old female is brought to emergency in a
semiconscious state with history of not eating food
since 4 days. O/E feeble pulse and hypotension.
Patient was previously healthy, Chest clear. CVS and
abdomen has no abnormality. Urine tested positive
for ketone bodies.
1.What could be the diagnosis?
2.Normal range of blood glucose?
3.What are ketone bodies?
4.Name the test for ketone bodies in urine.
5.Differential diagnosis of ketosis?
• A 7 yr old child was brought to hospital with complaints of
slow growth and extreme pain in bones. On examination he
was anemic with frontal bossing of fore head, bowing of legs
and swelling of costo-chondral junction.
Lab results …
• Serum Calcium—8.2mg/dl
• Serum Phosphorus—2.8mg/dl
• ALP—720U/L
1.What is likely diagnosis?
2.What is Osteomalacia?
3.What is Fanconi’s syndrome?
4.What is the important source ?
5.What is Calcitriol?
• A 9 year old girl presented with muscle pain and
cramps, tingling of hands and feet , stiffness,
recurrent carpopedal spasm and titanic posturing of
both hands and feet. She was a strict vegetarian
consuming no milk products. O/E no symptoms of
rickets or short stature , BP was normal. Trousseau’s
sign was positive. Serum Calcium level- 6.5 mg/dl.
1. What is your diagnosis?
2. What are the causes of this disease?
3. What are the other investigations?
4. What is Trouseeau’s sign?
5. What is Chvostek’s sign?
14
A menopausal female patient complains of
sudden, severe attacks of pain, tenderness,
redness and swelling in some joints. The large
toe is most affected.
1.What is the diagnosis?
2. Who are most affected?
3. How it is diagnosed?
4.What are the medications used to treat the
above condition?
5.Will dietary modifications help the disease?
• A 2 year old boy was brought to the hospital. He was
eating poorly for the last month , had intermittent
diarrhoea and had become irritable and apathetic. On
examination he was under height and small for age. He
was pale, weak, skin was flaky , hair was brittle,
abdomen was distended, liver was moderately enlarged
and generalised oedema was present.
1. What is the probable diagnosis?
2.What are the laboratory investigations done?
3.How do you differentiate this disorder from
marasmus?
4.WHO classification of malnutrition.
5. What is the treatment of this disorder?
16
An obese middle aged person was brought to the hospital
Emergency room with sweating, shortness of breath and
chest pain. His Lab investigation showed increased creatine
kinase(MB), Lactate dehydrogenase(LDH2) and Aspartate
Transaminase(AST) activities in serum. Liver function
parameters were normal.
1.What is your diagnosis?
2. What are the iso-enzymes of LDH?
3. What is flipped pattern ?
4. What are cardiac troponins?
5. What are the other markers elevated in MI?
17
• A 4 year old boy presented with hypotonia,
developmental delay, irritability and self mutilating
behaviour. On examination, there was testicular
atrophy and haematuria . The serum uric acid level
was 10 mg/dl.
1. What is the likely diagnosis?
2. What is the enzyme deficient in this disorder?
3. Which pathway is affected?
4. What is the metabolite which is accumulated?
5. What is the drug used in treatment?
18
A elderly gentleman with complaint of oliguria was brought to
the hospital in a confused state. Biochemistry investigations
revealed the following…
Serum Urea : 119 mg/dl
Serum Creatinine : 6.4 mg/dl
Serum Uric acid : 8.8 mg/dl
Serum inorganic phosphorus: 6.2 mg/dl
Serum Na+ : 130 meq/L
Serum K+ : 5.4 meq/L
1.What is your probable diagnosis?
2.What are the risk factors for ARF?
3.What are the serological tests done in ARF?
4.What is Creatinine clearance?
5.What is overt proteinuria?
20
A 38 yr old vegetarian female c/o of fatigue and
tingling and numbness in the extremities,
diarrhea and vomitings. O/E she is pale and
having tachycardia. Peripheral smear
examination demonstrated megaloblastic
anemia.
1.What is most likely diagnosis?
2.What are the common causes of this disorder?
3.How can we assess the above deficiency?
4.Which amino acid is elevated?
5.What are important dietary sources?
• A chronic alcoholic with impaired liver function has
been reported to medical OPD. His serum is sent for
total protein estimation.
1.What is normal reference range of serum proteins?
2.Mention two conditions where A:G ratio is reversed.
3.What are acute phase proteins?
4.Name two conditions of hypo-albuminemia?
5.Name other tests that can be ordered.
